SNP Links for Gene (Select 100302283) - SNP

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Links from Gene

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Select item 14907975731.

rs1490797573 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:2234527 (GRCh38)
19:2234526 (GRCh37)
Canonical SPDI:: NC_000019.10:2234526:A:G
Gene:: PLEKHJ1 (Varview), MIR1227 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000019.10:g.2234527A>G, NC_000019.9:g.2234526A>G, NG_029793.1:g.75379A>G

Select item 14906900492.

rs1490690049 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:2235247 (GRCh38)
19:2235246 (GRCh37)
Canonical SPDI:: NC_000019.10:2235246:G:A
Gene:: SF3A2 (Varview), PLEKHJ1 (Varview), MIR1227 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.2235247G>A, NC_000019.9:g.2235246G>A

Select item 14897995333.

rs1489799533 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:2233859 (GRCh38)
19:2233858 (GRCh37)
Canonical SPDI:: NC_000019.10:2233858:A:G
Gene:: PLEKHJ1 (Varview), MIR1227 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.2233859A>G, NC_000019.9:g.2233858A>G, NG_029793.1:g.74711A>G, NM_018049.3:c.431T>C, NM_018049.2:c.431T>C, NM_018049.1:c.431T>C, XM_017026928.2:c.374T>C, XM_017026928.1:c.374T>C, NP_060519.1:p.Leu144Pro, XP_016882417.1:p.Leu125Pro

Select item 14895388664.

rs1489538866 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:2233903 (GRCh38)
19:2233902 (GRCh37)
Canonical SPDI:: NC_000019.10:2233902:G:A,NC_000019.10:2233902:G:T
Gene:: PLEKHJ1 (Varview), MIR1227 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant,synonymous_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.2233903G>A, NC_000019.10:g.2233903G>T, NC_000019.9:g.2233902G>A, NC_000019.9:g.2233902G>T, NG_029793.1:g.74755G>A, NG_029793.1:g.74755G>T, NM_018049.3:c.387C>T, NM_018049.3:c.387C>A, NM_018049.2:c.387C>T, NM_018049.2:c.387C>A, NM_018049.1:c.387C>T, NM_018049.1:c.387C>A, XM_017026928.2:c.330C>T, XM_017026928.2:c.330C>A, XM_017026928.1:c.330C>T, XM_017026928.1:c.330C>A, NP_060519.1:p.Asp129Glu, XP_016882417.1:p.Asp110Glu

Select item 14885262945.

rs1488526294 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:2235238 (GRCh38)
19:2235237 (GRCh37)
Canonical SPDI:: NC_000019.10:2235237:T:C
Gene:: SF3A2 (Varview), PLEKHJ1 (Varview), MIR1227 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.2235238T>C, NC_000019.9:g.2235237T>C

Select item 14880999436.

rs1488099943 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:2235545 (GRCh38)
19:2235544 (GRCh37)
Canonical SPDI:: NC_000019.10:2235544:G:A
Gene:: SF3A2 (Varview), PLEKHJ1 (Varview), MIR1227 (Varview), MIR6789 (Varview)
Functional Consequence:: 2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.2235545G>A, NC_000019.9:g.2235544G>A

Select item 14870397377.

rs1487039737 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:2234246 (GRCh38)
19:2234245 (GRCh37)
Canonical SPDI:: NC_000019.10:2234245:G:A,NC_000019.10:2234245:G:T
Gene:: PLEKHJ1 (Varview), MIR1227 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.2234246G>A, NC_000019.10:g.2234246G>T, NC_000019.9:g.2234245G>A, NC_000019.9:g.2234245G>T, NG_029793.1:g.75098G>A, NG_029793.1:g.75098G>T

Select item 14863413168.

rs1486341316 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:2235976 (GRCh38)
19:2235975 (GRCh37)
Canonical SPDI:: NC_000019.10:2235975:G:A,NC_000019.10:2235975:G:C
Gene:: SF3A2 (Varview), PLEKHJ1 (Varview), MIR1227 (Varview), MIR6789 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000009/2 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.2235976G>A, NC_000019.10:g.2235976G>C, NC_000019.9:g.2235975G>A, NC_000019.9:g.2235975G>C, NM_018049.3:c.109C>T, NM_018049.3:c.109C>G, NM_018049.2:c.109C>T, NM_018049.2:c.109C>G, NM_018049.1:c.109C>T, NM_018049.1:c.109C>G, NM_001300836.3:c.109C>T, NM_001300836.3:c.109C>G, NM_001300836.2:c.109C>T, NM_001300836.2:c.109C>G, NM_001300836.1:c.109C>T, NM_001300836.1:c.109C>G, NP_060519.1:p.Leu37Val, NP_001287765.1:p.Leu37Val

Select item 14857325489.

rs1485732548 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 19:2234091 (GRCh38)
19:2234091 (GRCh37)
Canonical SPDI:: NC_000019.10:2234091:CCC:CCCC
Gene:: PLEKHJ1 (Varview), MIR1227 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CCCC=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.2234094dup, NC_000019.9:g.2234093dup, NG_029793.1:g.74946dup, NR_031596.1:n.58dup

Select item 148537221410.

rs1485372214 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:2235727 (GRCh38)
19:2235726 (GRCh37)
Canonical SPDI:: NC_000019.10:2235726:C:A,NC_000019.10:2235726:C:T
Gene:: SF3A2 (Varview), PLEKHJ1 (Varview), MIR1227 (Varview), MIR6789 (Varview)
Functional Consequence:: 2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000087/2 (ALFA)
A=0.000007/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.2235727C>A, NC_000019.10:g.2235727C>T, NC_000019.9:g.2235726C>A, NC_000019.9:g.2235726C>T

Select item 148513038811.

rs1485130388 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:2235712 (GRCh38)
19:2235711 (GRCh37)
Canonical SPDI:: NC_000019.10:2235711:G:A,NC_000019.10:2235711:G:C
Gene:: SF3A2 (Varview), PLEKHJ1 (Varview), MIR1227 (Varview), MIR6789 (Varview)
Functional Consequence:: 2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.2235712G>A, NC_000019.10:g.2235712G>C, NC_000019.9:g.2235711G>A, NC_000019.9:g.2235711G>C

Select item 148465802912.

rs1484658029 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:2235213 (GRCh38)
19:2235212 (GRCh37)
Canonical SPDI:: NC_000019.10:2235212:C:T
Gene:: SF3A2 (Varview), PLEKHJ1 (Varview), MIR1227 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000198/3 (ALFA)
T=0.000021/3 (GnomAD)
T=0.00067/3 (Estonian)
HGVS:: NC_000019.10:g.2235213C>T, NC_000019.9:g.2235212C>T

Select item 148442765013.

rs1484427650 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:2235456 (GRCh38)
19:2235455 (GRCh37)
Canonical SPDI:: NC_000019.10:2235455:A:T
Gene:: SF3A2 (Varview), PLEKHJ1 (Varview), MIR1227 (Varview), MIR6789 (Varview)
Functional Consequence:: 2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.2235456A>T, NC_000019.9:g.2235455A>T

Select item 148427411614.

rs1484274116 [Homo sapiens]

Variant type:: SNV:
Alleles:: G>A
Chromosome:: no mapping
Canonical SPDI:

Select item 148246148415.

rs1482461484 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC [Show Flanks]
Chromosome:: 19:2234825 (GRCh38)
19:2234824 (GRCh37)
Canonical SPDI:: NC_000019.10:2234824:CCCC:CCC,NC_000019.10:2234824:CCCC:CCCCC
Gene:: SF3A2 (Varview), PLEKHJ1 (Varview), MIR1227 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCC=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.2234828del, NC_000019.10:g.2234828dup, NC_000019.9:g.2234827del, NC_000019.9:g.2234827dup

Select item 148022191816.

rs1480221918 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:2235380 (GRCh38)
19:2235379 (GRCh37)
Canonical SPDI:: NC_000019.10:2235379:T:C
Gene:: SF3A2 (Varview), PLEKHJ1 (Varview), MIR1227 (Varview), MIR6789 (Varview)
Functional Consequence:: 2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.2235380T>C, NC_000019.9:g.2235379T>C

Select item 147758111217.

rs1477581112 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:2235600 (GRCh38)
19:2235599 (GRCh37)
Canonical SPDI:: NC_000019.10:2235599:T:C
Gene:: SF3A2 (Varview), PLEKHJ1 (Varview), MIR1227 (Varview), MIR6789 (Varview)
Functional Consequence:: 2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.2235600T>C, NC_000019.9:g.2235599T>C

Select item 147746222018.

rs1477462220 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:2235792 (GRCh38)
19:2235791 (GRCh37)
Canonical SPDI:: NC_000019.10:2235791:C:G,NC_000019.10:2235791:C:T
Gene:: SF3A2 (Varview), PLEKHJ1 (Varview), MIR1227 (Varview), MIR6789 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000132/2 (ALFA)
T=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000446/2 (Estonian)
HGVS:: NC_000019.10:g.2235792C>G, NC_000019.10:g.2235792C>T, NC_000019.9:g.2235791C>G, NC_000019.9:g.2235791C>T, NM_018049.3:c.199G>C, NM_018049.3:c.199G>A, NM_018049.2:c.199G>C, NM_018049.2:c.199G>A, NM_018049.1:c.199G>C, NM_018049.1:c.199G>A, NM_001300836.3:c.199G>C, NM_001300836.3:c.199G>A, NM_001300836.2:c.199G>C, NM_001300836.2:c.199G>A, NM_001300836.1:c.199G>C, NM_001300836.1:c.199G>A, XM_017026928.2:c.142G>C, XM_017026928.2:c.142G>A, XM_017026928.1:c.142G>C, XM_017026928.1:c.142G>A, NP_060519.1:p.Val67Leu, NP_060519.1:p.Val67Ile, NP_001287765.1:p.Val67Leu, NP_001287765.1:p.Val67Ile, XP_016882417.1:p.Val48Leu, XP_016882417.1:p.Val48Ile

Select item 147477353919.

rs1474773539 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:2234762 (GRCh38)
19:2234761 (GRCh37)
Canonical SPDI:: NC_000019.10:2234761:G:A
Gene:: PLEKHJ1 (Varview), MIR1227 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.2234762G>A, NC_000019.9:g.2234761G>A

Select item 147413584520.

rs1474135845 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:2234991 (GRCh38)
19:2234990 (GRCh37)
Canonical SPDI:: NC_000019.10:2234990:C:T
Gene:: SF3A2 (Varview), PLEKHJ1 (Varview), MIR1227 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.2234991C>T, NC_000019.9:g.2234990C>T